ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.235G>C (p.Glu79Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004525608 SCV005034782 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-09-09 criteria provided, single submitter clinical testing The p.E79Q variant (also known as c.235G>C), located in coding exon 2 of the CASR gene, results from a G to C substitution at nucleotide position 235. The glutamic acid at codon 79 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023559 SCV005657376 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2024-03-21 criteria provided, single submitter clinical testing

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